Open AccessLeber′s hereditary optic neuropathy with molecular characterization in two Indian families
Author(s) -
IC Verma,
Sunita Bijarnia,
Renu Saxena,
Sudha Kohli,
Ratna Dua Puri,
Elizabeth R. Thomas,
Debashish Chowdhary,
SN Jha,
AK Grover
Publication year - 2005
Publication title -
indian journal of ophthalmology/indian journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 51
eISSN - 1998-3689
pISSN - 0301-4738
DOI - 10.4103/0301-4738.16674
Subject(s) - medicine , leber's hereditary optic neuropathy , optic neuropathy , family history , mitochondrial dna , genetic counseling , mutation , atrophy , genetics , disease , molecular genetics , blindness , mitochondrial disease , polymerase chain reaction , gene mutation , gene , ophthalmology , pediatrics , optic nerve , pathology , optometry , biology
Leber's hereditary optic neuropathy (LHON) presents in early adulthood with painless progressive blindness of one or both eyes. Usually there is a positive family history of similar disease on the maternal side. Definitive diagnosis can be established by finding the change in the mitochondrial gene. No molecular studies have been reported from India.